The p.M172K TFR2 mutation was identified in two Italian siblings aged 32 and 40 years old with primary iron overload. The two patients showed a severe increase in serum iron indices. From the age of 25, the male sib also revealed abnormal levels of hepatic enzymes, presumably in relation to iron induced liver damage. Clinical findings seem to evidence that type 3 hemochromatosis can be more serious than classic hemochromatosis. This report adds two more type 3 hereditary hemochromatosis cases which suggest that TFR2 mutations could be more frequently involved in non-HFE hemochromatosis than has been actually thought.

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload / S., Majore; F., Milano; F., Binni; L., Stuppia; A., Cerrone; Tafuri, Agostino; C., De Bernardo; G., Palka; Grammatico, Paola. - In: HAEMATOLOGICA. - ISSN 1592-8721. - STAMPA. - 91:8 Suppl(2006), pp. 91-93.

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.

TAFURI, Agostino;GRAMMATICO, Paola
2006

Abstract

The p.M172K TFR2 mutation was identified in two Italian siblings aged 32 and 40 years old with primary iron overload. The two patients showed a severe increase in serum iron indices. From the age of 25, the male sib also revealed abnormal levels of hepatic enzymes, presumably in relation to iron induced liver damage. Clinical findings seem to evidence that type 3 hemochromatosis can be more serious than classic hemochromatosis. This report adds two more type 3 hereditary hemochromatosis cases which suggest that TFR2 mutations could be more frequently involved in non-HFE hemochromatosis than has been actually thought.
2006
hereditary hemochromatosis; primary iron overload; tfr2
01 Pubblicazione su rivista::01a Articolo in rivista
Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload / S., Majore; F., Milano; F., Binni; L., Stuppia; A., Cerrone; Tafuri, Agostino; C., De Bernardo; G., Palka; Grammatico, Paola. - In: HAEMATOLOGICA. - ISSN 1592-8721. - STAMPA. - 91:8 Suppl(2006), pp. 91-93.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/232932
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